Hexosaminidase activity was determined in cultured and uncultured amniotic fluid cells taken from seven pregnant women who had previously given birth to infants with Tay-Sachs disease. Complete deficiency of hexosaminidase A was found in one case, indicating a Tay-Sachs fetus. The diagnosis was confirmed on examination of various tissues after therapeutic abortion. Of the other six cases three ...

Clostridium difficile toxins A and B (TcdA and TcdB) are the causative agents of antibiotic-associated pseudomembranous colitis. Mucosal mast cells play a crucial role in the inflammatory processes underlying this disease. We studied the direct effects of TcdA and TcdB on the human mast cell line HMC-1 with respect to degranulation, cytokine release, and the activation of proinflammatory signal...

The deficiency of the A isoenzyme of beta-hexosaminidase (Hex) produced by different mutations of the gene that codes for the alpha subunit (Tay-Sachs disease) has two variants with enzymological differences: the B variant consists of the absence of Hex A isoenzyme and the B1 variant produces an inactive Hex A isoenzyme for the hydrolysis of the GM2 ganglioside and synthetic substrates with neg...

Neutrophils are a class of leukocytes involved in innate immunity by monitoring and scavenging invading microorganisms and toxic substances. The actions of neutrophils in damaged tissues are still not well understood, particularly in the early stage of inflammation, and as-yet-unknown neutrophil-activating substances are proposed to induce their acute transmigration and activation. Here, we iso...

Sulfate transport was examined in rat liver lysosomes that were isolated from thyroid hormone-treated, thyroidectomized, and control animals. Sulfate uptake was significantly decreased in lysosomes from animals that had received intraperitoneal T3 (3,5,3'-triiodothyronine) at a dose of 20 micrograms/100 g body weight. The effect of T3 was maximal by 24 h post-injection and resulted in marked de...

The introduction in recent years of more refined techniques for the isolation and characterization of biological lipids has led to the detection of a number of disorders which share with Tay-Sachs disease a disturbance of ganglioside metabolism. Gangliosides are sphingosine-containing glycolipids distinguished by the inclusion of neuraminic acid, and the various gangliosidoses are attributable ...

Purpose: The aim of this study is to evaluate the diagnosis characteristics, clinic findings, phenotypical and genotypical features children with GM2 gangliosidoses.
 Materials Methods: file records 14 patients diagnosed gangliosidoses in our were retrospectively reviewed. was confirmed by determining levels serum total hexosaminidase β-hexosaminidase activity genetic analysis. 
 Resu...

The pathogenic mycobacteria that cause tuberculosis (TB) and TB-like diseases in humans and animals elude sterilizing immunity by residing within an intracellular niche in host macrophages, where they are protected from microbicidal attack. Recent studies have emphasized microbial mechanisms for evasion of host defense; less is known about mycobactericidal mechanisms that remain intact during i...